Macrocephaly/autism syndrome

Preferred Label : Macrocephaly/autism syndrome;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the phosphatase and tensin homolog gene (PTEN, 601728.0007);

Prefixed ID : #605309;

Details

Origin ID

605309;

UMLS CUI

C1854416;

Currated CISMeF NLP mapping
- Macrocephaly, intellectual disability, autism syndrome (disorder) [SNOMED CT concept]
- Macrocephaly-intellectual disability-autism syndrome [ORDO Disease]
- macrocephaly autism syndrome [MeSH concept]
- macrocephaly autism syndrome [MeSH Supplementary Concept]
- macrocephaly-autism syndrome [DO Concept]
DO Cross reference
- macrocephaly-autism syndrome [DO Concept]
Genes related to phenotype
- Phosphatase and tensin homolog [OMIM gene]
HPO term(s)
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Biparietal narrowing [HPO term]
- Broad forehead [HPO term]
- Decreased circulating antibody level [HPO term]
- Depressed nasal bridge [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Intellectual disability [HPO term]
- Long philtrum [HPO term]
- Lymphopenia [HPO term]
- Obesity [HPO term]
- Postnatal macrocephaly [HPO term]
- Recurrent infections [HPO term]
- Short nose [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Macrocephaly-intellectual disability-autism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Macrocephaly-intellectual disability-autism syndrome [ORDO Disease]
- macrocephaly autism syndrome [MeSH Supplementary Concept]
- macrocephaly autism syndrome [MeSH concept]
- macrocephaly-autism syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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